Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness

• Published in: Molecular therapy Vol. 26; no. 6; pp. 1581 - 1593
• Main Authors: Song, Ji Yun, Aravand, Puya, Nikonov, Sergei, Leo, Lanfranco, Lyubarsky, Arkady, Bennicelli, Jeannette L., Pan, Jieyan, Wei, Zhangyong, Shpylchak, Ivan, Herrera, Pamela, Bennett, Daniel J., Commins, Nicoletta, Maguire, Albert M., Pham, Jennifer, den Hollander, Anneke I., Cremers, Frans P.M., Koenekoop, Robert K., Roepman, Ronald, Nishina, Patsy, Zhou, Shangzhen, Pan, Wei, Ying, Gui-shuang, Aleman, Tomas S., de Melo, Jimmy, McNamara, Ilan, Sun, Junwei, Mills, Jason, Bennett, Jean
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 06.06.2018; Elsevier Limited; American Society of Gene & Cell Therapy
• Subjects: AAV; adeno-associated virus; Age; animal model; Animal models; Animals; Blindness; Blindness - metabolism; Blindness - therapy; Cilia; Clinical trials; Congenital diseases; Cytomegalovirus; Dependovirus - genetics; Electroretinograms; Electroretinography; Eye Proteins - genetics; Eye Proteins - metabolism; Female; Gene therapy; Gene transfer; Genetic Therapy - methods; Humans; Leber congenital amaurosis; Leber Congenital Amaurosis - metabolism; Leber Congenital Amaurosis - therapy; Light; Mice; Mice, Inbred C57BL; Microtubule-Associated Proteins - genetics; Microtubule-Associated Proteins - metabolism; Mutation; Original; Photoreceptors; Proteins; Retina; Retinal degeneration; Rod outer segment membranes; Structure-function relationships; Visual perception; United States > US; gene therapy; Leber congenital amaurosis; retinal degeneration; adeno-associated virus; animal model; AAV

Most genetically distinct inherited retinal degenerations are primary photoreceptor degenerations. We selected a severe early onset form of Leber congenital amaurosis (LCA), caused by mutations in the gene LCA5, in order to test the efficacy of gene augmentation therapy for a ciliopathy. The LCA5-en...